-
1
-
-
33746196660
-
Keratin 5 knockout mice reveal plasticity of keratin expression in the corneal epithelium
-
Lu H, Zimek A, Chen J, et al. Keratin 5 knockout mice reveal plasticity of keratin expression in the corneal epithelium. Eur J Cell Biol. 2006;85:803-811.
-
(2006)
Eur J Cell Biol.
, vol.85
, pp. 803-811
-
-
Lu, H.1
Zimek, A.2
Chen, J.3
-
3
-
-
0343705883
-
Über eine bisher nicht beschriebene dominant vererbte Dystrophia epithelialis corneae
-
Meesmann A. Über eine bisher nicht beschriebene dominant vererbte Dystrophia epithelialis corneae. Ber Zusammenkunft Dtsch Ophthalmol Ges. 1938;154-158.
-
(1938)
Ber Zusammenkunft Dtsch Ophthalmol Ges.
, pp. 154-158
-
-
Meesmann, A.1
-
4
-
-
0031003675
-
Mutations in corneaspecific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
-
Irvine AD, Corden LD, Swensson O, et al. Mutations in corneaspecific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997:16;184-187.
-
(1997)
Nat Genet.
, vol.16
, pp. 184-187
-
-
Irvine, A.D.1
Corden, L.D.2
Swensson, O.3
-
5
-
-
54749150663
-
Genetics of Meesmann corneal dystrophy: A novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation
-
Szaflik JP, Ołdak M, Maksym RB, et al. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. Mol Vis. 2008;14:1713-1718.
-
(2008)
Mol Vis.
, vol.14
, pp. 1713-1718
-
-
Szaflik, J.P.1
Ołdak, M.2
Maksym, R.B.3
-
6
-
-
84875145043
-
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12
-
Hassan H, Thaung C, Ebenezer ND, Larkin G, Hardcastle AJ, Tuft SJ. Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. Eye (Lond). 2013;27:367-373.
-
(2013)
Eye (Lond).
, vol.27
, pp. 367-373
-
-
Hassan, H.1
Thaung, C.2
Ebenezer, N.D.3
Larkin, G.4
Hardcastle, A.J.5
Tuft, S.J.6
-
7
-
-
83155167571
-
Development of allelespecific therapeutic siRNA in Meesmann epithelial corneal dystrophy
-
Liao H, Irvine AD, Macewen CJ, et al. Development of allelespecific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One. 2011;6:e28582.
-
(2011)
PLoS One.
, vol.6
-
-
Liao, H.1
Irvine, A.D.2
Macewen, C.J.3
-
8
-
-
84874741259
-
Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy
-
Allen EHA, Atkinson SD, Liao H, et al. Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2013;54:494-502.
-
(2013)
Invest Ophthalmol Vis Sci.
, vol.54
, pp. 494-502
-
-
Allen, E.H.A.1
Atkinson, S.D.2
Liao, H.3
-
9
-
-
0031684037
-
Recurrent Meesmann's corneal epithelial dystrophy after penetrating keratoplasty
-
Chiou AG, Florakis GJ, Copeland RL, Williams VA, McCormick SA, Chiesa R. Recurrent Meesmann's corneal epithelial dystrophy after penetrating keratoplasty. Cornea. 1998;17: 566-570.
-
(1998)
Cornea.
, vol.17
, pp. 566-570
-
-
Chiou, A.G.1
Florakis, G.J.2
Copeland, R.L.3
Williams, V.A.4
McCormick, S.A.5
Chiesa, R.6
-
13
-
-
0032545933
-
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
-
Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC. Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature. 1998;391:806-811.
-
(1998)
Nature.
, vol.391
, pp. 806-811
-
-
Fire, A.1
Xu, S.2
Montgomery, M.K.3
Kostas, S.A.4
Driver, S.E.5
Mello, C.C.6
-
14
-
-
79954580272
-
Current prospects for RNA interference-based therapies
-
Davidson BL, McCray PB. Current prospects for RNA interference-based therapies. Nat Rev Genet. 2011;12:329-340.
-
(2011)
Nat Rev Genet.
, vol.12
, pp. 329-340
-
-
Davidson, B.L.1
McCray, P.B.2
-
15
-
-
80054741160
-
RNAi: A potential new class of therapeutic for human genetic disease
-
Seyhan AA. RNAi: a potential new class of therapeutic for human genetic disease. Hum Genet. 2011;130:583-605.
-
(2011)
Hum Genet.
, vol.130
, pp. 583-605
-
-
Seyhan, A.A.1
-
16
-
-
80052865748
-
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex
-
Atkinson SD, McGilligan VE, Liao H, et al. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol. 2011;131: 2079-2086.
-
(2011)
J Invest Dermatol.
, vol.131
, pp. 2079-2086
-
-
Atkinson, S.D.1
McGilligan, V.E.2
Liao, H.3
-
17
-
-
84861184577
-
Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder
-
Pedrioli DML, Fu DJ, Gonzalez-Gonzalez E, et al. Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol. 2012;132; 1627-1635.
-
(2012)
J Invest Dermatol.
, vol.132
, pp. 1627-1635
-
-
Pedrioli, D.M.L.1
Fu, D.J.2
Gonzalez-Gonzalez, E.3
-
18
-
-
37049039660
-
Development of therapeutic siRNAs for pachyonychia congenita
-
Smith FJD, Hickerson RP, Sayers JM, et al. Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol. 2008;128:50-58.
-
(2008)
J Invest Dermatol.
, vol.128
, pp. 50-58
-
-
Smith, F.J.D.1
Hickerson, R.P.2
Sayers, J.M.3
-
20
-
-
77951132901
-
Evidence of RNAi in humans from systemically administered siRNA via targeted nanoparticles
-
Davis ME, Zuckerman JE, Choi CHJ, et al. Evidence of RNAi in humans from systemically administered siRNA via targeted nanoparticles. Nature. 2010;464:1067-1070.
-
(2010)
Nature.
, vol.464
, pp. 1067-1070
-
-
Davis, M.E.1
Zuckerman, J.E.2
Choi, C.H.J.3
-
21
-
-
77952688315
-
A randomized, double-blind, placebo-controlled study of an RNAi-based therapy directed against respiratory syncytial virus
-
DeVincenzo J, Lambkin-Williams R, Wilkinson T, et al. A randomized, double-blind, placebo-controlled study of an RNAi-based therapy directed against respiratory syncytial virus. Proc Natl Acad Sci U S A. 2010;107:8800-8805.
-
(2010)
Proc Natl Acad Sci U S A.
, vol.107
, pp. 8800-8805
-
-
DeVincenzo, J.1
Lambkin-Williams, R.2
Wilkinson, T.3
-
22
-
-
0035809198
-
An inducible mouse model for epidermolysis bullosa simplex
-
Cao T, Longley MA, Wang X, Roop DR. An inducible mouse model for epidermolysis bullosa simplex. J Cell Biol. 2001;152: 651-656.
-
(2001)
J Cell Biol.
, vol.152
, pp. 651-656
-
-
Cao, T.1
Longley, M.A.2
Wang, X.3
Roop, D.R.4
-
23
-
-
79956039811
-
Corneal dystrophies: Molecular genetics to therapeutic intervention-fifth ARVO/Pfizer Ophthalmics Research Institute Conference
-
Weiss JS. Corneal dystrophies: molecular genetics to therapeutic intervention-fifth ARVO/Pfizer Ophthalmics Research Institute Conference. Invest Ophthalmol Vis Sci. 2010;51: 5391-5402.
-
(2010)
Invest Ophthalmol Vis Sci.
, vol.51
, pp. 5391-5402
-
-
Weiss, J.S.1
-
24
-
-
84867793421
-
Methods for characterization/manipulation of human corneal stem cells and their applications in regenerative medicine
-
Corradini F, Venturi B, Pellegrini G, De Luca M. Methods for characterization/manipulation of human corneal stem cells and their applications in regenerative medicine. Methods Mol Biol. 2012;916:357-372.
-
(2012)
Methods Mol Biol.
, vol.916
, pp. 357-372
-
-
Corradini, F.1
Venturi, B.2
Pellegrini, G.3
De Luca, M.4
-
25
-
-
33845351324
-
Q-FIHC: Quantification of fluorescence immunohistochemistry to analyse p63 isoforms and cell cycle phases in human limbal stem cells
-
Di Iorio E, Barbaro V, Ferrari S, Ortolani C, De Luca M, Pellegrini G. Q-FIHC: quantification of fluorescence immunohistochemistry to analyse p63 isoforms and cell cycle phases in human limbal stem cells. Microsc Res Tech. 2006;69:983-991.
-
(2006)
Microsc Res Tech.
, vol.69
, pp. 983-991
-
-
Di Iorio, E.1
Barbaro, V.2
Ferrari, S.3
Ortolani, C.4
De Luca, M.5
Pellegrini, G.6
-
26
-
-
80053006856
-
A comparison of stem cell-related gene expression in the progenitor-rich limbal epithelium and the differentiating central corneal epithelium
-
Nieto-Miguel T, Calonge M, de la Mata A, et al. A comparison of stem cell-related gene expression in the progenitor-rich limbal epithelium and the differentiating central corneal epithelium. Mol Vis. 2011;17:2102-2017.
-
(2011)
Mol Vis.
, vol.17
-
-
Nieto-Miguel, T.1
Calonge, M.2
de la Mata, A.3
-
27
-
-
9144247189
-
Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs
-
Soutschek J, Akinc A, Bramlage B, et al. Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs. Nature. 2004;432:173-178.
-
(2004)
Nature.
, vol.432
, pp. 173-178
-
-
Soutschek, J.1
Akinc, A.2
Bramlage, B.3
-
28
-
-
0038132996
-
Allele-specific silencing of dominant disease genes
-
Miller VM, Xia H, Marrs GL, et al. Allele-specific silencing of dominant disease genes. Proc Natl Acad Sci U S A. 2003;100: 7195-7200.
-
(2003)
Proc Natl Acad Sci U S A.
, vol.100
, pp. 7195-7200
-
-
Miller, V.M.1
Xia, H.2
Marrs, G.L.3
-
29
-
-
0034100522
-
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma
-
Smith FJ, Fisher MP, Healy E, et al. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Exp Dermatol. 2000;9:170-177.
-
(2000)
Exp Dermatol.
, vol.9
, pp. 170-177
-
-
Smith, F.J.1
Fisher, M.P.2
Healy, E.3
-
30
-
-
84875175557
-
Gene therapy in cystic fibrosis
-
Prickett M, Jain M. Gene therapy in cystic fibrosis. Transl Res. 2012;161:255-264.
-
(2012)
Transl Res.
, vol.161
, pp. 255-264
-
-
Prickett, M.1
Jain, M.2
-
31
-
-
76349084709
-
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder
-
Leachman SA, Hickerson RP, Schwartz ME, et al. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther. 2010;18:442-446.
-
(2010)
Mol Ther.
, vol.18
, pp. 442-446
-
-
Leachman, S.A.1
Hickerson, R.P.2
Schwartz, M.E.3
-
33
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
-
Munier FL, Korvatska E, Djemaï A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
-
(1997)
Nat Genet.
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korvatska, E.2
Djemaï, A.3
-
34
-
-
33744968013
-
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
-
Boutboul S, Black GCM, Moore JE, et al. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat. 2006;27:553-557.
-
(2006)
Hum Mutat.
, vol.27
, pp. 553-557
-
-
Boutboul, S.1
Black, G.C.M.2
Moore, J.E.3
-
35
-
-
0034646599
-
Amyloid and nonamyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein
-
Korvatska E, Henry H, Mashima Y, et al. Amyloid and nonamyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem. 2000;275: 11465-11469.
-
(2000)
J Biol Chem.
, vol.275
, pp. 11465-11469
-
-
Korvatska, E.1
Henry, H.2
Mashima, Y.3
-
36
-
-
39149111247
-
Single-nucleotidespecific siRNA targeting in a dominant-negative skin model
-
Hickerson RP, Smith FJD, Reeves RE, et al. Single-nucleotidespecific siRNA targeting in a dominant-negative skin model. J Invest Dermatol. 2008;128:594-605.
-
(2008)
J Invest Dermatol.
, vol.128
, pp. 594-605
-
-
Hickerson, R.P.1
Smith, F.J.D.2
Reeves, R.E.3
-
37
-
-
84894086032
-
Development of allele-specific gene-silencing siRNAS for TGFBI arg124cys in lattice corneal dystrophy type I
-
Courtney DG, Atkinson SD, Moore JE, et al. Development of allele-specific gene-silencing siRNAS for TGFBI arg124cys in lattice corneal dystrophy type I. Invest Ophthalmol Vis Sci. 2014;55:977-985.
-
(2014)
Invest Ophthalmol Vis Sci.
, vol.55
, pp. 977-985
-
-
Courtney, D.G.1
Atkinson, S.D.2
Moore, J.E.3
-
38
-
-
0035942736
-
Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells
-
Elbashir SM, Harborth J, Lendeckel W, Yalcin A, Weber K, Tuschl T. Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature. 2001;411; 494-498.
-
(2001)
Nature.
, vol.411
, pp. 494-498
-
-
Elbashir, S.M.1
Harborth, J.2
Lendeckel, W.3
Yalcin, A.4
Weber, K.5
Tuschl, T.6
-
39
-
-
30744438337
-
Bringing primary cells to mainstream drug development and drug testing
-
Goldbard S. Bringing primary cells to mainstream drug development and drug testing. Curr Opin Drug Discov Devel. 2006;9;110-116.
-
(2006)
Curr Opin Drug Discov Devel.
, vol.9
, pp. 110-116
-
-
Goldbard, S.1
-
40
-
-
84856956282
-
Delivery of siRNA to the mouse lung via a functionalized lipopolyamine
-
Polach KJ, Matar M, Rice J, et al. Delivery of siRNA to the mouse lung via a functionalized lipopolyamine. Mol Ther. 2012;20:91-100.
-
(2012)
Mol Ther.
, vol.20
, pp. 91-100
-
-
Polach, K.J.1
Matar, M.2
Rice, J.3
-
41
-
-
84877881610
-
Liposomes containing bile salts as novel ocular delivery systems for tacrolimus (FK506): In vitro characterization and improved corneal permeation
-
Dai Y, Zhou R, Liu L, Lu Y, Qi J, Wu W. Liposomes containing bile salts as novel ocular delivery systems for tacrolimus (FK506): in vitro characterization and improved corneal permeation. Int. J. Nanomedicine. 2013;1921.
-
(2013)
Int. J. Nanomedicine
, pp. 1921
-
-
Dai, Y.1
Zhou, R.2
Liu, L.3
Lu, Y.4
Qi, J.5
Wu, W.6
-
42
-
-
77954386915
-
Liposomepolyethylenimine complexes for enhanced DNA and siRNA delivery
-
Schäfer J, Höbel S, Bakowsky U, Aigner A. Liposomepolyethylenimine complexes for enhanced DNA and siRNA delivery. Biomaterials. 2010;31:6892-6900.
-
(2010)
Biomaterials.
, vol.31
, pp. 6892-6900
-
-
Schäfer, J.1
Höbel, S.2
Bakowsky, U.3
Aigner, A.4
|